Incidental Mutation 'R9069:Crybg1'
ID |
689437 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crybg1
|
Ensembl Gene |
ENSMUSG00000019866 |
Gene Name |
crystallin beta-gamma domain containing 1 |
Synonyms |
Aim1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9069 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
43826632-44024849 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 43874103 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Valine
at position 1002
(F1002V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143429
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020017]
[ENSMUST00000200401]
|
AlphaFold |
A0A0G2JG52 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020017
AA Change: F628V
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000020017 Gene: ENSMUSG00000019866 AA Change: F628V
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
low complexity region
|
114 |
121 |
N/A |
INTRINSIC |
low complexity region
|
176 |
192 |
N/A |
INTRINSIC |
low complexity region
|
436 |
453 |
N/A |
INTRINSIC |
low complexity region
|
507 |
518 |
N/A |
INTRINSIC |
low complexity region
|
544 |
557 |
N/A |
INTRINSIC |
low complexity region
|
837 |
857 |
N/A |
INTRINSIC |
XTALbg
|
995 |
1078 |
8.57e-9 |
SMART |
XTALbg
|
1094 |
1175 |
4.73e-20 |
SMART |
XTALbg
|
1189 |
1282 |
1.23e-32 |
SMART |
XTALbg
|
1290 |
1373 |
9.3e-28 |
SMART |
XTALbg
|
1386 |
1465 |
1.66e-24 |
SMART |
XTALbg
|
1473 |
1553 |
5.29e-32 |
SMART |
RICIN
|
1556 |
1689 |
5.86e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200401
AA Change: F1002V
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000143429 Gene: ENSMUSG00000019866 AA Change: F1002V
Domain | Start | End | E-Value | Type |
low complexity region
|
377 |
390 |
N/A |
INTRINSIC |
low complexity region
|
488 |
495 |
N/A |
INTRINSIC |
low complexity region
|
550 |
566 |
N/A |
INTRINSIC |
low complexity region
|
810 |
827 |
N/A |
INTRINSIC |
low complexity region
|
881 |
892 |
N/A |
INTRINSIC |
low complexity region
|
918 |
931 |
N/A |
INTRINSIC |
low complexity region
|
1211 |
1231 |
N/A |
INTRINSIC |
XTALbg
|
1369 |
1452 |
5.4e-11 |
SMART |
XTALbg
|
1468 |
1549 |
2.9e-22 |
SMART |
XTALbg
|
1563 |
1656 |
7.9e-35 |
SMART |
XTALbg
|
1664 |
1747 |
6e-30 |
SMART |
XTALbg
|
1760 |
1839 |
1.1e-26 |
SMART |
XTALbg
|
1847 |
1927 |
3.3e-34 |
SMART |
RICIN
|
1930 |
2063 |
3.3e-17 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (78/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
T |
A |
17: 45,818,523 (GRCm39) |
C103S |
probably damaging |
Het |
Adamts20 |
T |
C |
15: 94,236,349 (GRCm39) |
S841G |
probably benign |
Het |
Add3 |
T |
A |
19: 53,222,332 (GRCm39) |
V313E |
possibly damaging |
Het |
Ahr |
G |
T |
12: 35,562,771 (GRCm39) |
|
probably benign |
Het |
Ankrd12 |
T |
A |
17: 66,356,874 (GRCm39) |
M48L |
probably benign |
Het |
Apaf1 |
A |
C |
10: 90,859,580 (GRCm39) |
|
probably null |
Het |
Bank1 |
T |
C |
3: 135,989,772 (GRCm39) |
H106R |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,868,260 (GRCm39) |
|
probably benign |
Het |
Castor1 |
A |
G |
11: 4,170,141 (GRCm39) |
E73G |
probably benign |
Het |
Ccdc170 |
C |
T |
10: 4,511,016 (GRCm39) |
H692Y |
possibly damaging |
Het |
Cd93 |
A |
G |
2: 148,284,071 (GRCm39) |
I425T |
probably benign |
Het |
Celsr1 |
A |
C |
15: 85,914,772 (GRCm39) |
L1067R |
possibly damaging |
Het |
Clca3a2 |
A |
T |
3: 144,519,447 (GRCm39) |
|
probably benign |
Het |
Col14a1 |
T |
C |
15: 55,251,990 (GRCm39) |
S549P |
unknown |
Het |
Col6a4 |
A |
G |
9: 105,952,138 (GRCm39) |
S587P |
possibly damaging |
Het |
Crebbp |
C |
A |
16: 3,903,187 (GRCm39) |
M2017I |
probably benign |
Het |
Ctif |
T |
C |
18: 75,654,458 (GRCm39) |
E356G |
probably damaging |
Het |
Dbx2 |
T |
C |
15: 95,530,239 (GRCm39) |
K243E |
probably damaging |
Het |
Dgkh |
C |
T |
14: 78,853,957 (GRCm39) |
V394I |
probably damaging |
Het |
Dnaja4 |
T |
A |
9: 54,621,638 (GRCm39) |
M321K |
probably benign |
Het |
Dock9 |
T |
C |
14: 121,866,324 (GRCm39) |
N593S |
probably damaging |
Het |
Dot1l |
T |
A |
10: 80,626,560 (GRCm39) |
S1260R |
probably damaging |
Het |
Eea1 |
A |
T |
10: 95,831,510 (GRCm39) |
L200F |
probably damaging |
Het |
Elp2 |
T |
G |
18: 24,765,833 (GRCm39) |
F658V |
probably benign |
Het |
Fbxw15 |
G |
A |
9: 109,394,468 (GRCm39) |
Q116* |
probably null |
Het |
Fstl5 |
A |
T |
3: 76,615,416 (GRCm39) |
N826Y |
probably damaging |
Het |
Galp |
T |
C |
7: 6,214,347 (GRCm39) |
S60P |
possibly damaging |
Het |
Gm7298 |
G |
T |
6: 121,761,393 (GRCm39) |
M1316I |
probably benign |
Het |
Gsdmc |
T |
C |
15: 63,649,902 (GRCm39) |
M330V |
probably benign |
Het |
Hectd2 |
T |
C |
19: 36,562,862 (GRCm39) |
F175L |
probably benign |
Het |
Hmbs |
A |
G |
9: 44,248,102 (GRCm39) |
I318T |
possibly damaging |
Het |
Ifi205 |
T |
C |
1: 173,855,841 (GRCm39) |
D63G |
probably benign |
Het |
Il10ra |
T |
A |
9: 45,167,396 (GRCm39) |
Q387L |
probably damaging |
Het |
Kcnj14 |
C |
A |
7: 45,469,388 (GRCm39) |
G39V |
probably benign |
Het |
Kpna1 |
T |
C |
16: 35,836,381 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,331,996 (GRCm39) |
D1586E |
probably damaging |
Het |
Lrrc45 |
A |
G |
11: 120,607,947 (GRCm39) |
I243V |
probably benign |
Het |
Lrrc7 |
T |
C |
3: 157,946,138 (GRCm39) |
K187R |
probably benign |
Het |
Mamdc4 |
G |
T |
2: 25,453,371 (GRCm39) |
T1216N |
probably damaging |
Het |
Map1a |
A |
C |
2: 121,134,145 (GRCm39) |
K1654Q |
probably benign |
Het |
Mta2 |
G |
A |
19: 8,924,104 (GRCm39) |
V195M |
probably damaging |
Het |
Nav2 |
G |
T |
7: 49,208,561 (GRCm39) |
R1583L |
probably damaging |
Het |
Or2y1g |
A |
T |
11: 49,171,247 (GRCm39) |
T91S |
probably benign |
Het |
Or4c112 |
A |
T |
2: 88,854,308 (GRCm39) |
L13Q |
probably damaging |
Het |
Or9i14 |
T |
C |
19: 13,792,735 (GRCm39) |
Y73C |
probably damaging |
Het |
Osbpl1a |
T |
A |
18: 13,002,074 (GRCm39) |
|
probably benign |
Het |
Pcdh17 |
T |
C |
14: 84,685,084 (GRCm39) |
V517A |
possibly damaging |
Het |
Pcdhb14 |
T |
A |
18: 37,583,157 (GRCm39) |
C754* |
probably null |
Het |
Pkd1 |
T |
C |
17: 24,791,988 (GRCm39) |
V1225A |
probably damaging |
Het |
Plekhm3 |
T |
C |
1: 64,960,802 (GRCm39) |
N485D |
probably benign |
Het |
Plekho1 |
A |
C |
3: 95,902,995 (GRCm39) |
S14A |
unknown |
Het |
Ppp2r3d |
A |
T |
9: 101,090,006 (GRCm39) |
C106S |
probably benign |
Het |
Ppp6c |
A |
C |
2: 39,094,928 (GRCm39) |
L99R |
probably damaging |
Het |
Pramel27 |
A |
G |
4: 143,578,345 (GRCm39) |
S202G |
probably benign |
Het |
Prkdc |
T |
A |
16: 15,653,091 (GRCm39) |
Y3855* |
probably null |
Het |
Ptpru |
A |
T |
4: 131,503,565 (GRCm39) |
I1155N |
possibly damaging |
Het |
Reln |
C |
T |
5: 22,216,059 (GRCm39) |
G1042D |
probably damaging |
Het |
Sall4 |
A |
G |
2: 168,596,773 (GRCm39) |
V689A |
probably benign |
Het |
Sec31b |
C |
T |
19: 44,507,741 (GRCm39) |
G768S |
probably damaging |
Het |
Serpinb10 |
T |
A |
1: 107,474,549 (GRCm39) |
V237D |
probably benign |
Het |
Serpinb9 |
T |
G |
13: 33,199,579 (GRCm39) |
D291E |
probably benign |
Het |
Slc12a7 |
T |
G |
13: 73,954,089 (GRCm39) |
|
probably benign |
Het |
Slfn8 |
A |
T |
11: 82,907,902 (GRCm39) |
F214I |
probably damaging |
Het |
Slu7 |
A |
T |
11: 43,328,952 (GRCm39) |
D58V |
probably damaging |
Het |
Smu1 |
T |
C |
4: 40,745,558 (GRCm39) |
Y254C |
probably damaging |
Het |
Snapc4 |
A |
T |
2: 26,260,805 (GRCm39) |
Y479* |
probably null |
Het |
Specc1l |
A |
G |
10: 75,066,640 (GRCm39) |
N30D |
probably benign |
Het |
Spopfm1 |
A |
C |
3: 94,173,153 (GRCm39) |
S50R |
possibly damaging |
Het |
Tbck |
T |
C |
3: 132,428,130 (GRCm39) |
|
probably null |
Het |
Tcf7l1 |
T |
C |
6: 72,610,259 (GRCm39) |
Y246C |
probably damaging |
Het |
Tmem43 |
C |
T |
6: 91,463,897 (GRCm39) |
R391W |
possibly damaging |
Het |
Trav7-1 |
T |
G |
14: 52,892,566 (GRCm39) |
S40A |
possibly damaging |
Het |
Trim45 |
T |
A |
3: 100,832,440 (GRCm39) |
Y224* |
probably null |
Het |
Trio |
A |
T |
15: 27,852,097 (GRCm39) |
I798N |
possibly damaging |
Het |
Trnau1ap |
A |
T |
4: 132,056,662 (GRCm39) |
|
probably null |
Het |
Vmn1r213 |
T |
C |
13: 23,196,043 (GRCm39) |
S209P |
probably damaging |
Het |
Ythdf1 |
G |
T |
2: 180,552,857 (GRCm39) |
R453S |
probably damaging |
Het |
|
Other mutations in Crybg1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00155:Crybg1
|
APN |
10 |
43,868,505 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00502:Crybg1
|
APN |
10 |
43,834,309 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00848:Crybg1
|
APN |
10 |
43,843,814 (GRCm39) |
splice site |
probably null |
|
IGL01287:Crybg1
|
APN |
10 |
43,868,490 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL01310:Crybg1
|
APN |
10 |
43,879,596 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01310:Crybg1
|
APN |
10 |
43,851,054 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02683:Crybg1
|
APN |
10 |
43,865,212 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL03095:Crybg1
|
APN |
10 |
43,865,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R0062:Crybg1
|
UTSW |
10 |
43,873,902 (GRCm39) |
missense |
probably damaging |
0.98 |
R0142:Crybg1
|
UTSW |
10 |
43,875,059 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0294:Crybg1
|
UTSW |
10 |
43,862,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R0539:Crybg1
|
UTSW |
10 |
43,874,894 (GRCm39) |
missense |
probably benign |
0.03 |
R0781:Crybg1
|
UTSW |
10 |
43,875,089 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1110:Crybg1
|
UTSW |
10 |
43,875,089 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1189:Crybg1
|
UTSW |
10 |
43,874,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R1428:Crybg1
|
UTSW |
10 |
43,851,074 (GRCm39) |
missense |
probably benign |
0.33 |
R1521:Crybg1
|
UTSW |
10 |
43,874,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R1688:Crybg1
|
UTSW |
10 |
43,849,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R1728:Crybg1
|
UTSW |
10 |
43,880,015 (GRCm39) |
missense |
probably damaging |
0.97 |
R1756:Crybg1
|
UTSW |
10 |
43,862,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R1773:Crybg1
|
UTSW |
10 |
43,868,544 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1784:Crybg1
|
UTSW |
10 |
43,880,015 (GRCm39) |
missense |
probably damaging |
0.97 |
R1850:Crybg1
|
UTSW |
10 |
43,873,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R1911:Crybg1
|
UTSW |
10 |
43,873,673 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1920:Crybg1
|
UTSW |
10 |
43,873,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R1964:Crybg1
|
UTSW |
10 |
43,834,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R2298:Crybg1
|
UTSW |
10 |
43,875,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R3617:Crybg1
|
UTSW |
10 |
43,832,782 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3913:Crybg1
|
UTSW |
10 |
43,874,759 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4081:Crybg1
|
UTSW |
10 |
43,851,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R4116:Crybg1
|
UTSW |
10 |
43,875,158 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4409:Crybg1
|
UTSW |
10 |
43,874,754 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4583:Crybg1
|
UTSW |
10 |
43,873,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R4721:Crybg1
|
UTSW |
10 |
43,873,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R4818:Crybg1
|
UTSW |
10 |
43,874,583 (GRCm39) |
missense |
probably benign |
0.00 |
R4859:Crybg1
|
UTSW |
10 |
43,868,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R4933:Crybg1
|
UTSW |
10 |
43,875,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R5028:Crybg1
|
UTSW |
10 |
43,874,208 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5057:Crybg1
|
UTSW |
10 |
43,865,104 (GRCm39) |
nonsense |
probably null |
|
R5102:Crybg1
|
UTSW |
10 |
43,873,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R5103:Crybg1
|
UTSW |
10 |
43,873,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R5137:Crybg1
|
UTSW |
10 |
43,834,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R5212:Crybg1
|
UTSW |
10 |
43,843,739 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5307:Crybg1
|
UTSW |
10 |
43,879,710 (GRCm39) |
missense |
probably benign |
0.00 |
R5353:Crybg1
|
UTSW |
10 |
43,849,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R5463:Crybg1
|
UTSW |
10 |
43,879,689 (GRCm39) |
nonsense |
probably null |
|
R5503:Crybg1
|
UTSW |
10 |
43,874,762 (GRCm39) |
missense |
probably benign |
0.00 |
R5583:Crybg1
|
UTSW |
10 |
43,879,506 (GRCm39) |
missense |
probably benign |
0.01 |
R5835:Crybg1
|
UTSW |
10 |
43,851,129 (GRCm39) |
missense |
probably benign |
0.28 |
R6021:Crybg1
|
UTSW |
10 |
43,873,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R6032:Crybg1
|
UTSW |
10 |
43,832,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R6032:Crybg1
|
UTSW |
10 |
43,832,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R6277:Crybg1
|
UTSW |
10 |
43,873,255 (GRCm39) |
missense |
probably benign |
0.03 |
R6338:Crybg1
|
UTSW |
10 |
43,868,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R6348:Crybg1
|
UTSW |
10 |
43,879,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R6514:Crybg1
|
UTSW |
10 |
43,873,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R6785:Crybg1
|
UTSW |
10 |
43,875,167 (GRCm39) |
missense |
probably benign |
0.00 |
R6804:Crybg1
|
UTSW |
10 |
43,842,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R6938:Crybg1
|
UTSW |
10 |
43,873,379 (GRCm39) |
missense |
probably benign |
0.01 |
R6983:Crybg1
|
UTSW |
10 |
43,875,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R7002:Crybg1
|
UTSW |
10 |
43,874,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R7153:Crybg1
|
UTSW |
10 |
43,840,662 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7271:Crybg1
|
UTSW |
10 |
43,873,619 (GRCm39) |
nonsense |
probably null |
|
R7293:Crybg1
|
UTSW |
10 |
43,879,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R7304:Crybg1
|
UTSW |
10 |
43,873,254 (GRCm39) |
missense |
probably benign |
0.05 |
R7313:Crybg1
|
UTSW |
10 |
43,865,107 (GRCm39) |
missense |
probably damaging |
0.98 |
R7373:Crybg1
|
UTSW |
10 |
43,880,136 (GRCm39) |
missense |
probably benign |
0.00 |
R7449:Crybg1
|
UTSW |
10 |
43,880,515 (GRCm39) |
missense |
probably benign |
|
R7530:Crybg1
|
UTSW |
10 |
43,875,069 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7660:Crybg1
|
UTSW |
10 |
43,874,831 (GRCm39) |
missense |
probably damaging |
0.97 |
R7701:Crybg1
|
UTSW |
10 |
43,865,139 (GRCm39) |
missense |
probably benign |
0.06 |
R8181:Crybg1
|
UTSW |
10 |
43,862,322 (GRCm39) |
missense |
probably damaging |
0.98 |
R8237:Crybg1
|
UTSW |
10 |
43,842,376 (GRCm39) |
nonsense |
probably null |
|
R8359:Crybg1
|
UTSW |
10 |
43,868,538 (GRCm39) |
missense |
probably benign |
0.03 |
R8751:Crybg1
|
UTSW |
10 |
43,880,838 (GRCm39) |
missense |
probably benign |
0.04 |
R8809:Crybg1
|
UTSW |
10 |
43,879,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R9017:Crybg1
|
UTSW |
10 |
43,880,477 (GRCm39) |
missense |
probably benign |
0.00 |
R9099:Crybg1
|
UTSW |
10 |
43,874,844 (GRCm39) |
missense |
probably benign |
0.01 |
R9118:Crybg1
|
UTSW |
10 |
43,879,925 (GRCm39) |
missense |
possibly damaging |
0.56 |
R9185:Crybg1
|
UTSW |
10 |
43,880,091 (GRCm39) |
missense |
probably benign |
0.04 |
R9486:Crybg1
|
UTSW |
10 |
43,880,145 (GRCm39) |
start gained |
probably benign |
|
R9561:Crybg1
|
UTSW |
10 |
43,873,428 (GRCm39) |
missense |
probably benign |
0.00 |
RF005:Crybg1
|
UTSW |
10 |
43,880,741 (GRCm39) |
missense |
probably benign |
0.03 |
RF024:Crybg1
|
UTSW |
10 |
43,880,741 (GRCm39) |
missense |
probably benign |
0.03 |
X0065:Crybg1
|
UTSW |
10 |
43,868,522 (GRCm39) |
synonymous |
silent |
|
Z1088:Crybg1
|
UTSW |
10 |
43,873,307 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCTGGGGCACACATACTGC -3'
(R):5'- TGTCACAGTAATGAGCCTGAAG -3'
Sequencing Primer
(F):5'- GGGCACACATACTGCACTGTC -3'
(R):5'- CAGTAATGAGCCTGAAGTGGTGTC -3'
|
Posted On |
2021-11-19 |